Canonical Allele Identifier: CA410263070

Gene: TUBA8 PEX26

Linked Data

• ClinVar Variation Id: 2964591
• ClinVar RCV Id: RCV003828213
• MyVariant Identifiers: chr22:g.18609229G>A (hg19) ; chr22:g.18126462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18126462G>A , CM000684.2:g.18126462G>A	GRCh38
NC_000022.10:g.18609229G>A , CM000684.1:g.18609229G>A	GRCh37
NC_000022.9:g.16989229G>A	NCBI36
NG_023429.1:g.20777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330423.8:c.484G>A (TUBA8) MANE Select	ENSP00000333326.3:p.Gly162Ser
ENST00000416740.2:c.286G>A (TUBA8)	ENSP00000412646.2:p.Gly96Ser
ENST00000474897.6:c.*374G>A	ENSP00000434235.2:n.*374G>A
ENST00000679481.1:n.853G>A (TUBA8)
ENST00000679963.1:c.286G>A (TUBA8)	ENSP00000505896.1:p.Gly96Ser
ENST00000680175.1:c.484G>A (TUBA8)	ENSP00000505461.1:p.Gly162Ser
ENST00000316027.10:c.286G>A (TUBA8)	ENSP00000318575.6:p.Gly96Ser
ENST00000330423.7:c.484G>A (TUBA8)	ENSP00000333326.3:p.Gly162Ser
ENST00000416740.1:c.556G>A (TUBA8)	ENSP00000412646.1:p.Gly186Ser
ENST00000474897.5:c.*282G>A (PEX26)	ENSP00000434235.1:n.*282G>A
NM_001193414.1:c.286G>A (TUBA8)	NP_001180343.1:p.Gly96Ser
NM_018943.2:c.484G>A (TUBA8)	NP_061816.1:p.Gly162Ser
NM_018943.3:c.484G>A (TUBA8) MANE Select	NP_061816.1:p.Gly162Ser
NM_001193414.2:c.286G>A (TUBA8)	NP_001180343.1:p.Gly96Ser